BioMed CentralJournal of Cardiothoracic Surgery

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Open AcceCase reportUnique type of isolated cardiac valvular amyloidosisShehzad Iqbal*, Salma Reehana and David Lawrence

Address: Cardiothoracic Surgery, Heart Hospital, University College of London, London, UK

Email: Shehzad Iqbal* - drshehzadiqbal@yahoo.com; Salma Reehana - salmapmr@doctors.org.uk; David Lawrence - david.lawrence@uclh.nhs.uk

* Corresponding author

AbstractBackground: Amyloid deposition in heart is a common occurrence in systemic amyloidosis. Butlocalised valvular amyloid deposits are very uncommon. It was only in 1922 that the cases ofvalvular amyloidosis were reported. Then in 1980, Goffin et al reported another type of valvularamyloidosis, which he called the dystrophic valvular amyloidosis. We report a case of aortic valveamyloidosis which is different from the yet described valvular amyloidosis.

Case presentation: A 72 years old gentleman underwent urgent aortic valve replacement.Intraoperatively, a lesion was found attached to the inferior surface of his bicuspid aortic valve.

Histopathology examination of the valve revealed that the lesion contained amyloid deposits,identified as AL amyloidosis. The serum amyloid A protein (SAP) scan was normal and showed noevidence of systemic amyloidosis. The ECG and echocardiogram were not consistent with cardiacamyloidosis.

Conclusion: Two major types of cardiac amyloidosis have been described in literature: primary-myelomatous type (occurs with systemic amyolidosis), and senile type(s). Recently, a localisedcardiac dystrophic valvular amyloidosis has been described. In all previously reported cases, therewas a strong association of localised valvular amyloidosis with calcific deposits.

Ours is a unique case which differs from the previously reported cases of localised valvular amyloidosis. In this case, the lesion was not associated with any scar tissue. Also there was no calcific deposit found. This may well be a yet unknown type of isolated valvular amyloidosis.

BackgroundAmyloid deposition in heart is a common occurrence insystemic amyloidosis. But localised valvular amyloiddeposits are very uncommon. It was only in 1922 that thecases of valvular amyloidosis were reported [1]. Then in1980, Goffin et al reported another type of valvular amy-loidosis, which he called the 'dystrophic valvular amy-loidosis'. We report a case of aortic valve amyloidosis

which is different from the previously described isolatedvalvular amyloidosis.

Case presentationA 72 year old gentleman was admitted with shortness ofbreath and palpitations via accident & emergency depart-ment. He was found to be in atrial fibrillation and in leftventricular failure. He was a hypertensive diabetic with

Published: 25 October 2006

Journal of Cardiothoracic Surgery 2006, 1:38 doi:10.1186/1749-8090-1-38

Received: 22 August 2006Accepted: 25 October 2006

This article is available from: http://www.cardiothoracicsurgery.org/content/1/1/38

© 2006 Iqbal et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Journal of Cardiothoracic Surgery 2006, 1:38 http://www.cardiothoracicsurgery.org/content/1/1/38

poorly controlled blood sugar. Examination revealed anejection systolic murmur. His left ventricular failure wastreated with diuretics. Transthoracic echocardiographyshowed a stenotic bicuspid aortic valve, with a valve areaof 0.6 sq.cm. and a peak gradient at rest of 90 mm Hg. Hispulmonary artery systolic pressure was 50 mm Hg. Alesion attached to the inferior surface of the leaflets andextending onto the basal septum was visualised.

He was referred for urgent aortic valve replacement fol-lowing stabilisation with diuretics. At operation, thelesion was found attached to the inferior surface of hisbicuspid aortic valve. It abutted but was not attached tohis ventricular septum. The valve and the lesion were

excised intact and the valve replaced with a 23 mmmechanical prosthesis.

The patient had a prolonged post-operative phase compli-cated by respiratory infection. However, he went on tomake an excellent recovery and was discharged home.

ResultsHistopathology examination of the valve revealed that thelesion contained abundant amorphous eosinophilicmaterial. The presence of amyloid deposits was demon-strated by positive staining with congo red and with applegreen birefringence. Staining was performed using mono-specific antibodies reactive with serum amyloid A protein(SAA), apolipoprotein (apoAl), transthyretin (TTR) and

Aortic valve amyloid deposit, stained with congo redFigure 4Aortic valve amyloid deposit, stained with congo red.

Amyloid deposit in aortic valve lesion, stained with apple green birefringenceFigure 2Amyloid deposit in aortic valve lesion, stained with apple green birefringence

Lesion on the inferior surface of bicuspid aortic valveFigure 1Lesion on the inferior surface of bicuspid aortic valve.

Intra-operative pictureFigure 3Intra-operative picture.

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with kappa and lambda immunoglobulin light chains.These investigations were negative, concluding that thiswas a non-AA type deposit and AL (monoclonal immu-noglobin light chain) amyloidosis was the most likelydiagnosis.

Further investigations and follow up were carried out inthe Centre for Amyloidosis and Acute Phase Proteins,NHS National Amyloidosis Centre in the Royal Free Hos-pital London. Review of the valve histology confirmed thepresence of abundant, often nodular amyloid depositswithin a fibrinous mass; the amyloid did not stain forkappa or lambda, SAA, Apolipoprotein AI or TTR.Sequencing of TTR gene was wild type.

The serum amyloid A protein (SAP) scan was normal andshowed no evidence of systemic amyloidosis [2]. The ECG andecho were not consistent with cardiac amyloidosis. Therewas no evidence of paraprotein in serum or urine. Theserum free light chain assay was normal. Serum creatininewas 78 ml/min, measured clearance 82.8 ml/min, 24-hour urine protein loss 0.3 g and serum albumin was 47g/l. Remaining biochemistry and full blood count wasnormal.

DiscussionThere are two major types of cardiac amyloidosisdescribed in literature: the primary-myelomatous type,which occurs in association with systemic amyolidosis,and the senile type(s), in which the heart is involved in amore localised fashion [4]. Recently, a third type of car-diac amyloidosis, which restricts to the heart valves, hasbeen described, first by Goffin and then by Falk et al. Thislocalised valvular amyloidosis has been named 'dys-trophic valvular amyloidosis' [3,4]. It was noted that thevalvular amyloid deposits were more frequent in mitraland tricuspid valves than in the aortic valve [3].

In most of these reported cases, the valvular amyloiddeposits were associated with some scar tissue which waspresumably the result of some chronic mechanical trauma[5] or inflammatory process [3].

Also, in all of the previously reported cases, there wasfound to be a very strong association of localised valvularamyloidosis with calcified deposits. In a study by John H.Cooper et al [4] which encompassed 152 surgicallyresected heart valves, all amyloidotic heart valves showedsome degree of calcification, and conversely 81 percent ofcalcified valves showed amyloidosis. The same associa-tion between amyloidosis and calcification was con-firmed in the study by Falk et al [5], which showed thatamyloid deposits were found in all of 39 severely calcifiedaortic valves.

ConclusionOurs is the second only reported case (after Groves et al[6]) which differs from the previously reported cases andstudies of localised valvular amyloidosis.

In this case, the lesion on the aortic valve was not associ-ated with any scar tissue. Also there was no calcific depositfound on histopathology examination. Either this was ayet unknown type of isolated valvular amyloidosis or avariant of the already described dystrophic valvular amy-loidosis, is unclear.

AcknowledgementsSpecial acknowledgement to Professor P N Hawkins, National Amyloidosis Centre, Royal Free Hospital, London

References1. Kann G: Ein Fall von isolierter Amyloidose des Herzens. Vir-

chows Archiv fur Pathologische Anatomie and Physiologie 1922, 237:22-31.2. Centre for Amyloidosis and Acute Phase Proteins, Univer-

sity College of London [http://www.ucl.ac.uk/medicine/amyloidosis/nac/nac7.html]

3. Goffin Y: Microscopic amyloid deposits in the heart valves: acommon complication of chronic damage and scarring. J ClinPathol 1980, 33:262.

4. Cooper JH: Localised Dystrophic Amyloidosis of HeartValves. Human Pathology 1983, 17:7.

5. Falk E, Ladefoged C, Christenensen HE: Amyloid deposits in calci-fied aortic valves. Acta Patol Microbiol Scand [A] 1981, 89:23.

6. Groves PH, Douglas-Jones AG, Hall RJC: Amyloid, thrombosis,and acute myocardial infarction in association with a bicus-pid aortic valve. Br Heart J 1993, 70:560-562.

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